LIPT1, lipoyltransferase 1, 51601

N. diseases: 55; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs767568897
rs767568897 		1.000 2 99162169 missense variant C/G;T snv 8.0E-06; 8.8E-05
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 1.000 2 2013 2014
dbSNP: rs137973334
rs137973334 		1.000 2 99162249 missense variant C/G;T snv 1.2E-04; 4.0E-06
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 0
dbSNP: rs786205156
rs786205156 		1.000 2 99162492 missense variant A/G snv 4.0E-06
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.800 0
dbSNP: rs137891647
rs137891647 		1.000 2 99162832 stop gained C/G snv 3.6E-04 4.6E-04
CUI: C4225379
Disease: LIPOYLTRANSFERASE 1 DEFICIENCY
LIPOYLTRANSFERASE 1 DEFICIENCY 		0.700 1.000 1 2013 2013
dbSNP: rs4851189
rs4851189 		2 99153581 intron variant T/C snv 0.83
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013